Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
scientific article published on 27 September 2017
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author: Roberta De Mori, Enrico Bertini, Enza Maria Valente, Maha Zaki, Silvia Tardivo, Alessia Micalizzi, Sara Nuovo, Mahmoud Y Issa, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Tommaso Mazza, William B. Dobyns, Valentina Stanley, Barbara Illi, Marta Romani, Damir Musaev, Monia Ginevrino
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